scholarly journals Anaesthesia for diagnostic muscle biopsy in an infant with Pompe’s disease

1986 ◽  
Vol 33 (6) ◽  
pp. 790-794 ◽  
Author(s):  
Kathleen R. Rosen ◽  
Lynn M. Broadman
Keyword(s):  
Muscle Biopsy ◽  
Pompe’S Disease ◽  
Pompe's Disease

scholarly journals The diagnostic value of vacuolar characterization in muscular biopsy in Pompe's Disease

2021 ◽  
Vol 29 ◽  
pp. 1-20
Author(s):  
Beatriz Akemi Gonçalves ◽  
Acary Souza Bulle de Oliveira
Keyword(s):  
Muscle Biopsy ◽  
Neuromuscular Diseases ◽  
Diagnostic Value ◽  
Mitochondrial Activity ◽  
Biopsy Material ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Determining Factors ◽  
Histological Characteristics

Introduction. Through muscle biopsy we can observe the formation of vacuoles that alter the structure of cells and tissues in Pompe's disease. The presence of these vacuoles varies as the disease progresses, relating to the broad clinical spectrum presented by the disease. Objectives. After confirming the disease, examine the possibility of diagnosing or excluding the diagnosis of Pompe's disease through the vacuolar characteristics presented. Method. Analysis of the muscle biopsy material of selected patients at the Neuromuscular Diseases Investigation Clinic at the Federal University of São Paulo. Through staining and histochemical techniques, a comparative study of the histological characteristics found was performed. Results. Thirty-three biopsies had the diagnosis of Pompe's disease confirmed, being 13 women and 20 men. Of this group, 23 received the diagnosis when they were 18 years old or more, and 10 received the diagnosis under the age of 18 years. Delimiting membrane and subsarcolemal location were the main vacuolar characteristic found, manifesting in 86.6% of the studied cases. Integration between the vacuole membranes was observed in 62.5% of the cases. We also found necrosis, replacement of muscle tissue by connective or adipose tissue, increased mitochondrial activity and absence of predominance in one type of fiber. Conclusion. Muscle biopsy allows to analyze a series of peculiarities presented by vacuoles in Pompe's Disease and, thus, it proves to be a sure technique, allowing to reach a quick conclusion and to identify determining factors for the clinical conduct and maintenance of quality of life of the patient with Pompe's disease.

scholarly journals A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation

1993 ◽  
Vol 8 (3) ◽  
pp. 221 ◽  
Author(s):  
Dong Gyu Kim ◽  
Kisuck Jung ◽  
Myung Koo Lee ◽  
In Gyu Hyun ◽  
Hwa Jung Lim ◽  
...  
Keyword(s):  
Juvenile Form ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Alveolar Hypoventilation

??-Glucosidase appears promising in Pompe's disease

2000 ◽  
Vol &NA; (1249) ◽  
pp. 8
Author(s):  
&NA;
Keyword(s):  
Pompe’S Disease ◽  
Pompe's Disease

Diagnosis of Pompe's disease using pyridylamino-maltooligosaccharides as substrates of α-1,4-glucosidase

1985 ◽  
Vol 147 (2) ◽  
pp. 97-102 ◽  
Author(s):  
Mitsuo Midorikawa ◽  
Shintaro Okada ◽  
Tomochika Kato ◽  
Tohru Yutaka ◽  
Hyakuji Yabuuchi
Keyword(s):  
Pompe’S Disease ◽  
Pompe's Disease

Administration of a Mixture of Fungal Glucosidases to a Patient with Type II Glycogenosis (Pompe's Disease)

PEDIATRICS ◽  
1968 ◽  
Vol 42 (4) ◽  
pp. 672-676
Author(s):  
Ronald M. Lauer ◽  
Thelma Mascarinas ◽  
Antonio S. Racela ◽  
Antoni M. Diehl ◽  
Barbara Illingworth Brown
Keyword(s):  
Skeletal Muscle ◽  
Enzyme Assay ◽  
Glycogen Content ◽  
Hydrolytic Enzymes ◽  
Type Ii ◽  
Electron Microscopic ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Type Ii Glycogenosis

A case of Type II glycogenosis (Pompe's disease) has been studied by histochemical, electron microscopic, and biochemical techniques. These studies have been made prior to and after the intramuscular administration for 1 week of a mixture of hydrolytic enzymes containing both α-1,4- and α-1,6-glucosidase activities. Electron photomicrographs of the liver before enzyme administration showed glycogen to be located both within and outside of membrane-limited vacuoles. No change in this distribution could be detected in tissue removed by biopsy after enzyme administration. This impression was confirmed by the determination of glycogen content which was shown to be unchanged. Nevertheless, the liver was found by enzyme assay to contain the administered enzyme. Leucocytes isolated from blood taken 4 hours after the last enzyme injection were also shown to contain the parenterally administered glucosidases. In skeletal muscle glycogen was present chiefly as extrasaccular deposits which were unchanged in appearance by enzyme administration. No glucosidase activity was demonstrable in the skeletal muscle after such a treatment. Myocardium sectioned after autopsy had major deposits of glycogen in extrasaccular areas.

The conduction system in Pompe's disease

1982 ◽  
Vol 2 (1) ◽  
pp. 25-32 ◽  
Author(s):  
Saroja Bharati ◽  
Maria Serratto ◽  
Ira DuBrow ◽  
Milton H. Paul ◽  
Steven Swiryn ◽  
...  
Keyword(s):  
Conduction System ◽  
Pompe’S Disease ◽  
Pompe's Disease
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